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Article

Short stature as the only presenting feature in a patient with an isodicentric (Y)(q11.23) and gonadoblastoma. A clinical and molecular cytogenetic study.

European journal of pediatrics - 1 Mar 2001

Giltay J C, Ausems M G, van Seumeren I, Zewald R A, Sinke R J, Faas B, de Vroede M

Abstract excerpt

A 13-year-old phenotypically female patient presented with short stature (height SDS -2.6), but without any Turner stigmata or other dysmorphic features. Chromosome analysis showed mosaicism for an isodicentric (idic) (Y)(q11.23) containing cell line and a 45,X cell line. Subsequent gonadectomy revealed a left streak ovary and a right ovary of abnormal appearance, which on histological examination appeared to...

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PMID: 11277375
DOI: 10.1007/s004310000683

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